Canonical Allele Identifier: CA371304123

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773464A>C (hg19) ; chr8:g.60860905A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860905A>C , CM000670.2:g.60860905A>C	GRCh38
NC_000008.10:g.61773464A>C , CM000670.1:g.61773464A>C	GRCh37
NC_000008.9:g.61936018A>C	NCBI36
NG_007009.1:g.187126A>C , LRG_176:g.187126A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.786A>C
ENST00000695853.1:c.*669A>C	ENSP00000512218.1:n.*669A>C
ENST00000423902.7:c.7610A>C MANE Select	ENSP00000392028.1:p.Glu2537Ala
ENST00000423902.6:c.7610A>C	ENSP00000392028.1:p.Glu2537Ala
ENST00000524602.5:c.1717-1324A>C	ENSP00000437061.1:n.1717-1324A>C
ENST00000531695.1:n.34A>C
ENST00000618450.1:n.2A>C
NM_001316690.1:c.1717-1324A>C	NP_001303619.1:n.1717-1324A>C
NM_017780.3:c.7610A>C	NP_060250.2:p.Glu2537Ala
XM_011517553.1:c.7700A>C	XP_011515855.1:p.Glu2567Ala
XM_011517554.1:c.7700A>C	XP_011515856.1:p.Glu2567Ala
XM_011517555.1:c.7697A>C	XP_011515857.1:p.Glu2566Ala
XM_011517556.1:c.7699-1291A>C	XP_011515858.1:n.7699-1291A>C
XM_011517557.1:c.5687A>C	XP_011515859.1:p.Glu1896Ala
XM_011517558.1:c.5237A>C	XP_011515860.1:p.Glu1746Ala
XM_011517559.1:c.4445A>C	XP_011515861.1:p.Glu1482Ala
XM_011517553.2:c.7700A>C	XP_011515855.1:p.Glu2567Ala
XM_011517554.3:c.7700A>C	XP_011515856.1:p.Glu2567Ala
XM_011517555.2:c.7697A>C	XP_011515857.1:p.Glu2566Ala
XM_017013612.1:c.7700A>C	XP_016869101.1:p.Glu2567Ala
XM_017013613.1:c.7607A>C	XP_016869102.1:p.Glu2536Ala
NM_017780.4:c.7610A>C MANE Select	NP_060250.2:p.Glu2537Ala